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Article

[Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Yoshida K

Abstract excerpt

Molecular analysis of the aspartylglucosaminidase (AGA) gene was performed on two Japanese siblings with aspartylglucosaminuria (AGU). They were the first Japanese patients diagnosed as AGU and up to now, no other patients with AGU have been discovered in Japan. AGA cDNA from one patient contained 7-nt (TCTCCAG) insertion between exons 3 and 4, which was identical with the 3'-terminal sequence of intron 3....

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Identifiers

PMID: 8411707

Genes

AGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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